The impact of the D727e polymorphism has no significant role in multi nodular goiter

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Küçük Resim

Tarih

2012

Dergi Başlığı

Dergi ISSN

Cilt Başlığı

Yayıncı

Macedonian Acad Sciences Arts

Erişim Hakkı

info:eu-repo/semantics/openAccess

Özet

Interactions between individual genetic and environ-mental factors determine the onset of the multi nodular goiter (MNG). The thyroid-stimulating hormone receptor (TSHR) gene is a convincing candidate gene in the pathogenesis of certain thyroid diseases including MNG. We investigated the codon 727 polymorphism (p.Asp727Glu, p.D727E) of the human TSHR gene using the polymerase chain reaction-restriction fragment length polymorphim (PCR-RFLP) methods in 31 Turkish patients with MNG and in 30 control subjects, aiming to evaluate the relationship between this polymorphism and MNG. After genomic DNA isolation, PCR amplification was performed using a pair of primers in exon 10 of the TSHR gene that contains the p.D727E polymorphism and digested by theNlaIII (Hin1II) restriction enzyme. We found the CC and CG genotype incidence for the patient group to be 0.71 and 0.29, respectively, and for the control group to be 0.8 and 0.2, respectively. No statistically significant difference was found between the genotype and allele distribution of both groups (p = 0.417 and p = 0.449, respectively). However, the polymorphism is significantly correlated with the low serum level of the TSH (p = 0.047). These results suggest that the p.D727E polymorphism of the TSHR gene may not contribute to the pathogenesis of nontoxic MNG diseases.

Açıklama

Anahtar Kelimeler

Multi nodular goiter (MNG), Codon 727 apolymorphism, p.D727E, Thyroid-stimulating Hormone Receptor (TSHR) Gene

Kaynak

Balkan Journal Of Medical Genetics

WoS Q Değeri

Q4

Scopus Q Değeri

Q4

Cilt

15

Sayı

2

Künye